| BLOC-3 is a Rab32 and Rab38 guanine nucleotide exchange factor, with a specific function in the biogenesis of lysosome-related organelles. Silencing of the BLOC-3 subunits Hps1 and Hps4 results in the mislocalization of Rab32 and Rab38. | BLOC-3 mutated in Hermansky-Pudlak syndrome is a Rab32/38 guanine nucleotide exchange factor.
Gerondopoulos A, Langemeyer L, Liang JR, Linford A, Barr FA., Free PMC Article | 07/20/2015 |
| These findings suggested the involvement of HPS4 in the working memory of healthy subjects and in the executive function deficits in schizophrenia. | Association of the Hermansky-Pudlak syndrome type 4 (HPS4) gene variants with cognitive function in patients with schizophrenia and healthy subjects.
Kuratomi G, Saito A, Ozeki Y, Watanabe T, Fujii K, Shimoda K, Inukai T, Mori H, Ohmori K, Akiyama K., Free PMC Article | 01/10/2015 |
| These results suggest that the HPS4 gene confers a susceptibility to schizophrenia. | An association study of the Hermansky-Pudlak syndrome type 4 gene in schizophrenic patients.
Saito A, Kuratomi G, Ito C, Matsuoka H, Suzuki T, Ozeki Y, Watanabe T, Fujii K, Shimoda K, Fukushima Y, Inukai T, Ohmori K, Akiyama K. | 04/26/2014 |
| Seven mutations (six previously unreported) were described in the HPS1, HPS4, and HPS5 genes among Hermansky-Pudlak Syndrome patients of Mexican, Uruguayan, Honduran, Cuban, Venezuelan, and Salvadoran ancestries. | Clinical, molecular, and cellular features of non-Puerto Rican Hermansky-Pudlak syndrome patients of Hispanic descent.
Carmona-Rivera C, Golas G, Hess RA, Cardillo ND, Martin EH, O'Brien K, Tsilou E, Gochuico BR, White JG, Huizing M, Gahl WA., Free PMC Article | 01/14/2012 |
| Data show that recombinant HPS1-HPS4 produced in insect cells can be efficiently isolated as a 1:1 heterodimer, and might function as a Rab9 effector in the biogenesis of lysosome-related organelles. | Assembly of the biogenesis of lysosome-related organelles complex-3 (BLOC-3) and its interaction with Rab9.
Kloer DP, Rojas R, Ivan V, Moriyama K, van Vlijmen T, Murthy N, Ghirlando R, van der Sluijs P, Hurley JH, Bonifacino JS., Free PMC Article | 05/3/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type.
Hutton SM, Spritz RA., Free PMC Article | 05/21/2008 |
| Observational study of genotype prevalence. (HuGE Navigator) | Intestinal disease in Hermansky-Pudlak syndrome: occurrence of colitis and relation to genotype.
Hussain N, Quezado M, Huizing M, Geho D, White JG, Gahl W, Mannon P. | 03/13/2008 |
| HPS4 but not HPS3 associates with HPS1 in a complex, which we term biogenesis of lysosome-related organelles complex 3 (BLOC-3) | Biogenesis of lysosome-related organelles complex 3 (BLOC-3): a complex containing the Hermansky-Pudlak syndrome (HPS) proteins HPS1 and HPS4.
Nazarian R, Falcón-Pérez JM, Dell'Angelica EC., Free PMC Article | 01/21/2010 |
| Hermansky-Pudlak syndrome type 4 (HPS-4) patients exhibited iris transillumination, variable hair and skin pigmentation, absent platelet dense bodies, and occasional pulmonary fibrosis and granulomatous colitis. | Hermansky-Pudlak syndrome type 4 (HPS-4): clinical and molecular characteristics.
Anderson PD, Huizing M, Claassen DA, White J, Gahl WA. | 01/21/2010 |
| observations demonstrate that the Hermansky-Pudlak syndrome 1(HPS1) and HPS4 proteins are components of a cytosolic complex that is involved in the biogenesis of lysosomal-related organelles | BLOC-3, a protein complex containing the Hermansky-Pudlak syndrome gene products HPS1 and HPS4.
Martina JA, Moriyama K, Bonifacino JS. | 01/21/2010 |
| identification as a component of two complexes, BLOC-3 and BLOC-4, involved in the biogenesis of lysosome-related organelles | The Hermansky-Pudlak syndrome 1 (HPS1) and HPS4 proteins are components of two complexes, BLOC-3 and BLOC-4, involved in the biogenesis of lysosome-related organelles.
Chiang PW, Oiso N, Gautam R, Suzuki T, Swank RT, Spritz RA. | 01/21/2010 |
| identification of mutations which establish HPS4 as important in Herman-Pudlak syndrome, and identification of mouse homolog light-ear gene | Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene.
Suzuki T, Li W, Zhang Q, Karim A, Novak EK, Sviderskaya EV, Hill SP, Bennett DC, Levin AV, Nieuwenhuis HK, Fong CT, Castellan C, Miterski B, Swank RT, Spritz RA. | 01/21/2010 |